Mutagenetix > Incidental Mutation

Incidental Mutation 'R2051:Erbb2'

226453

Institutional Source

Beutler Lab

Gene Symbol

Erbb2

Ensembl Gene

ENSMUSG00000062312

Gene Name

erb-b2 receptor tyrosine kinase 2

Synonyms

c-neu, ErbB-2, c-erbB2, HER-2, l11Jus8, Neu, Neu oncogene, HER2

MMRRC Submission

040058-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2051 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98303310-98328542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98310998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 53 (C53R)

Ref Sequence

ENSEMBL: ENSMUSP00000053897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058295]

AlphaFold

P70424

Predicted Effect

probably damaging
Transcript: ENSMUST00000058295
AA Change: C53R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053897
Gene: ENSMUSG00000062312
AA Change: C53R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Recep_L_domain	52	174	2e-32	PFAM
FU	190	231	1.88e1	SMART
FU	233	276	1.03e-6	SMART
Pfam:Recep_L_domain	367	487	2.3e-23	PFAM
FU	502	551	3.08e-5	SMART
FU	558	607	3.97e-8	SMART
transmembrane domain	654	676	N/A	INTRINSIC
TyrKc	721	977	1.28e-126	SMART
low complexity region	1040	1080	N/A	INTRINSIC
low complexity region	1148	1163	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136032

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158598

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit degeneration of motor nerves, an absence of Schwann cells, impairment of junctional folds at the neuromuscular synapse, and cardiac defects that results in lethality by embryonic day 10.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,562,447 (GRCm39)	T98M	probably damaging	Het
4932414N04Rik	G	T	2: 68,541,392 (GRCm39)	K10N	possibly damaging	Het
Aadat	T	A	8: 60,960,173 (GRCm39)	S40T	probably benign	Het
Abca13	A	G	11: 9,278,098 (GRCm39)	I3093V	probably benign	Het
Acacb	A	T	5: 114,383,951 (GRCm39)	Q2160L	probably damaging	Het
Acp6	G	T	3: 97,075,333 (GRCm39)	S189I	probably benign	Het
Actr5	A	T	2: 158,474,213 (GRCm39)	M339L	probably benign	Het
Adcy1	A	T	11: 7,111,885 (GRCm39)	K917*	probably null	Het
Adgrg5	C	T	8: 95,668,695 (GRCm39)	R504C	probably benign	Het
Ago1	T	C	4: 126,354,246 (GRCm39)	H188R	probably benign	Het
Akap9	T	A	5: 4,025,685 (GRCm39)	C23*	probably null	Het
Ank3	T	C	10: 69,733,920 (GRCm39)	I728T	probably damaging	Het
Ankrd50	A	G	3: 38,508,642 (GRCm39)	S1242P	probably benign	Het
Arhgap29	G	A	3: 121,775,509 (GRCm39)	R84H	probably benign	Het
Arhgef10	A	G	8: 14,995,320 (GRCm39)	D7G	probably null	Het
Arid4b	A	G	13: 14,362,230 (GRCm39)	E898G	probably damaging	Het
Atrnl1	A	G	19: 57,680,281 (GRCm39)	N727S	probably benign	Het
Baalc	G	T	15: 38,796,629 (GRCm39)		probably benign	Het
Cdc25c	G	C	18: 34,871,292 (GRCm39)	L275V	probably damaging	Het
Chpf2	G	T	5: 24,796,274 (GRCm39)	V407L	probably benign	Het
Chrnb3	C	A	8: 27,876,839 (GRCm39)	N84K	probably damaging	Het
Cnot1	A	G	8: 96,451,221 (GRCm39)	F2171L	possibly damaging	Het
Csmd3	C	T	15: 48,485,389 (GRCm39)		probably null	Het
Cux1	T	A	5: 136,361,512 (GRCm39)	Q138L	probably damaging	Het
Cyp2c65	A	G	19: 39,070,675 (GRCm39)	N286S	probably benign	Het
Dclre1b	T	C	3: 103,716,356 (GRCm39)	S17G	possibly damaging	Het
Dlgap5	A	G	14: 47,648,941 (GRCm39)	S221P	probably benign	Het
Dnah1	T	G	14: 31,001,080 (GRCm39)	T2422P	probably damaging	Het
Enpp1	A	G	10: 24,587,702 (GRCm39)		probably null	Het
Exoc8	A	G	8: 125,622,219 (GRCm39)	V716A	probably benign	Het
Fam193a	T	A	5: 34,619,494 (GRCm39)	D766E	probably benign	Het
Fbxo43	C	A	15: 36,162,278 (GRCm39)	G310W	probably damaging	Het
Fcgbp	C	T	7: 27,819,785 (GRCm39)	T2504I	probably damaging	Het
Fnbp4	C	T	2: 90,587,876 (GRCm39)	P418L	probably benign	Het
Gjd2	T	C	2: 113,841,539 (GRCm39)	T313A	probably damaging	Het
Gm12695	T	A	4: 96,658,008 (GRCm39)	R54W	probably damaging	Het
Gm128	T	C	3: 95,148,051 (GRCm39)	D81G	possibly damaging	Het
Gm21834	A	G	17: 58,048,763 (GRCm39)	V151A	possibly damaging	Het
Grhl1	T	A	12: 24,636,151 (GRCm39)		probably null	Het
Hcn1	C	T	13: 118,112,619 (GRCm39)	T861I	probably damaging	Het
Herc6	C	A	6: 57,602,961 (GRCm39)	Q547K	probably benign	Het
Iqgap3	T	C	3: 88,027,474 (GRCm39)	L699P	probably damaging	Het
Kank4	T	C	4: 98,668,339 (GRCm39)	D36G	probably damaging	Het
Kcnk5	A	T	14: 20,192,277 (GRCm39)	S295T	probably damaging	Het
Krt18	T	C	15: 101,937,935 (GRCm39)	V144A	probably benign	Het
Krtap9-5	A	G	11: 99,840,030 (GRCm39)	I244V	unknown	Het
Leng1	T	G	7: 3,668,400 (GRCm39)	N16T	probably damaging	Het
Lss	A	G	10: 76,367,712 (GRCm39)	K15E	possibly damaging	Het
Mastl	G	T	2: 23,022,836 (GRCm39)	A629E	possibly damaging	Het
Mavs	G	C	2: 131,082,370 (GRCm39)	A85P	possibly damaging	Het
Nav3	T	C	10: 109,660,536 (GRCm39)	D678G	probably damaging	Het
Nsd3	T	G	8: 26,181,116 (GRCm39)	S906A	probably damaging	Het
Nsfl1c	A	G	2: 151,345,002 (GRCm39)	N118S	probably damaging	Het
Nup205	T	A	6: 35,207,451 (GRCm39)	M1501K	probably benign	Het
Or4p7	C	T	2: 88,221,882 (GRCm39)	T97M	possibly damaging	Het
Or6n1	T	A	1: 173,916,785 (GRCm39)	Y60N	possibly damaging	Het
Pax8	A	G	2: 24,326,520 (GRCm39)	S281P	probably benign	Het
Pds5b	T	G	5: 150,671,655 (GRCm39)	I433R	probably damaging	Het
Peg3	T	C	7: 6,715,720 (GRCm39)	N117D	probably damaging	Het
Pfkm	A	T	15: 98,029,573 (GRCm39)	D728V	probably benign	Het
Phkb	T	C	8: 86,776,450 (GRCm39)		probably null	Het
Pkp4	T	C	2: 59,165,248 (GRCm39)	V704A	probably benign	Het
Ppfia2	T	A	10: 106,673,160 (GRCm39)	S501T	probably damaging	Het
Ptpru	T	C	4: 131,546,398 (GRCm39)	E284G	possibly damaging	Het
Ror1	C	T	4: 100,265,065 (GRCm39)	R180*	probably null	Het
Ryr3	T	A	2: 112,586,986 (GRCm39)	Y2666F	probably damaging	Het
Sec23a	C	A	12: 59,037,754 (GRCm39)		probably null	Het
Sertad3	C	T	7: 27,175,694 (GRCm39)	Q43*	probably null	Het
Setd2	C	T	9: 110,379,958 (GRCm39)	H1258Y	probably benign	Het
Sharpin	A	G	15: 76,232,407 (GRCm39)	S177P	probably benign	Het
Skap1	T	C	11: 96,432,289 (GRCm39)	F86S	possibly damaging	Het
Slc8a2	T	C	7: 15,874,940 (GRCm39)	I396T	probably damaging	Het
Slc9a2	T	C	1: 40,765,597 (GRCm39)	F329S	probably damaging	Het
Slx4ip	C	T	2: 136,908,125 (GRCm39)	L161F	possibly damaging	Het
Sox4	A	G	13: 29,136,764 (GRCm39)	S81P	probably damaging	Het
Ssc4d	G	T	5: 135,999,118 (GRCm39)	S28R	probably benign	Het
St8sia2	C	T	7: 73,592,950 (GRCm39)	G369S	possibly damaging	Het
Swt1	T	C	1: 151,248,081 (GRCm39)	Y836C	probably damaging	Het
Taar7d	A	G	10: 23,903,904 (GRCm39)	D262G	probably benign	Het
Taar8b	T	A	10: 23,967,212 (GRCm39)	L327F	probably benign	Het
Tars1	A	T	15: 11,393,280 (GRCm39)	L138*	probably null	Het
Tbcd	A	T	11: 121,344,496 (GRCm39)	D75V	probably damaging	Het
Tesc	A	G	5: 118,184,394 (GRCm39)	I25V	probably damaging	Het
Tmem132e	G	T	11: 82,331,264 (GRCm39)	S407I	probably damaging	Het
Tmem50b	C	A	16: 91,377,180 (GRCm39)	A95S	possibly damaging	Het
Tnr	T	C	1: 159,719,603 (GRCm39)	I960T	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpcn1	G	C	5: 120,681,453 (GRCm39)	P532A	probably damaging	Het
Tpsb2	T	C	17: 25,585,539 (GRCm39)		probably benign	Het
Triobp	C	A	15: 78,888,740 (GRCm39)	H1948Q	probably damaging	Het
Tshb	T	C	3: 102,684,857 (GRCm39)	I116V	probably benign	Het
Ttc13	A	T	8: 125,398,950 (GRCm39)		probably null	Het
Usp34	A	T	11: 23,414,468 (GRCm39)	T2804S	probably damaging	Het
Vmn2r18	A	T	5: 151,486,016 (GRCm39)	C493S	possibly damaging	Het
Vmn2r2	T	C	3: 64,024,766 (GRCm39)	K605R	possibly damaging	Het
Vmn2r37	T	C	7: 9,220,792 (GRCm39)	Y357C	probably damaging	Het
Zc3h6	T	G	2: 128,857,538 (GRCm39)	S686A	possibly damaging	Het
Zfp608	G	A	18: 55,121,386 (GRCm39)	P67L	probably benign	Het
Zyg11a	T	C	4: 108,049,244 (GRCm39)		probably benign	Het

Other mutations in Erbb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Erbb2	APN	11	98,326,456 (GRCm39)	missense	probably damaging	1.00
IGL01460:Erbb2	APN	11	98,325,365 (GRCm39)	missense	probably damaging	1.00
IGL01483:Erbb2	APN	11	98,325,365 (GRCm39)	missense	probably damaging	1.00
IGL01514:Erbb2	APN	11	98,323,745 (GRCm39)	missense	possibly damaging	0.94
IGL01520:Erbb2	APN	11	98,324,835 (GRCm39)	missense	probably benign	0.05
IGL03007:Erbb2	APN	11	98,319,819 (GRCm39)	splice site	probably benign
IGL03367:Erbb2	APN	11	98,313,701 (GRCm39)	splice site	probably null
Angular	UTSW	11	98,313,596 (GRCm39)	missense	probably damaging	0.98
PIT4544001:Erbb2	UTSW	11	98,311,865 (GRCm39)	missense	probably benign
R0234:Erbb2	UTSW	11	98,327,265 (GRCm39)	missense	probably benign	0.33
R0234:Erbb2	UTSW	11	98,327,265 (GRCm39)	missense	probably benign	0.33
R0388:Erbb2	UTSW	11	98,318,177 (GRCm39)	missense	possibly damaging	0.66
R0602:Erbb2	UTSW	11	98,325,097 (GRCm39)	missense	probably damaging	1.00
R1467:Erbb2	UTSW	11	98,327,001 (GRCm39)	nonsense	probably null
R1467:Erbb2	UTSW	11	98,327,001 (GRCm39)	nonsense	probably null
R1500:Erbb2	UTSW	11	98,319,804 (GRCm39)	missense	probably damaging	1.00
R1651:Erbb2	UTSW	11	98,324,283 (GRCm39)	missense	probably damaging	1.00
R1748:Erbb2	UTSW	11	98,326,161 (GRCm39)	missense	probably benign	0.06
R1807:Erbb2	UTSW	11	98,319,680 (GRCm39)	missense	probably damaging	1.00
R1861:Erbb2	UTSW	11	98,303,563 (GRCm39)	critical splice donor site	probably null
R1926:Erbb2	UTSW	11	98,315,990 (GRCm39)	missense	probably benign
R1998:Erbb2	UTSW	11	98,319,779 (GRCm39)	missense	probably damaging	1.00
R3147:Erbb2	UTSW	11	98,324,865 (GRCm39)	missense	probably damaging	1.00
R4022:Erbb2	UTSW	11	98,326,123 (GRCm39)	missense	probably benign	0.09
R4238:Erbb2	UTSW	11	98,318,869 (GRCm39)	missense	probably benign	0.01
R4239:Erbb2	UTSW	11	98,318,869 (GRCm39)	missense	probably benign	0.01
R4240:Erbb2	UTSW	11	98,318,869 (GRCm39)	missense	probably benign	0.01
R4633:Erbb2	UTSW	11	98,323,814 (GRCm39)	missense	possibly damaging	0.91
R4725:Erbb2	UTSW	11	98,315,970 (GRCm39)	missense	possibly damaging	0.71
R5093:Erbb2	UTSW	11	98,318,279 (GRCm39)	missense	probably damaging	1.00
R5306:Erbb2	UTSW	11	98,319,032 (GRCm39)	missense	probably benign	0.44
R5375:Erbb2	UTSW	11	98,324,238 (GRCm39)	missense	probably damaging	1.00
R5518:Erbb2	UTSW	11	98,313,596 (GRCm39)	missense	probably damaging	0.98
R5710:Erbb2	UTSW	11	98,317,906 (GRCm39)	missense	probably damaging	1.00
R5938:Erbb2	UTSW	11	98,326,397 (GRCm39)	missense	probably damaging	0.99
R6062:Erbb2	UTSW	11	98,324,075 (GRCm39)	missense	probably damaging	1.00
R6116:Erbb2	UTSW	11	98,318,225 (GRCm39)	missense	probably damaging	1.00
R6514:Erbb2	UTSW	11	98,310,972 (GRCm39)	missense	probably benign	0.03
R6556:Erbb2	UTSW	11	98,326,908 (GRCm39)	missense	possibly damaging	0.92
R6570:Erbb2	UTSW	11	98,313,873 (GRCm39)	missense	possibly damaging	0.88
R6578:Erbb2	UTSW	11	98,319,014 (GRCm39)	missense	probably damaging	1.00
R7141:Erbb2	UTSW	11	98,318,135 (GRCm39)	missense	probably damaging	1.00
R7686:Erbb2	UTSW	11	98,326,399 (GRCm39)	missense	probably benign
R8274:Erbb2	UTSW	11	98,324,722 (GRCm39)	missense	probably damaging	1.00
R8439:Erbb2	UTSW	11	98,319,798 (GRCm39)	missense	possibly damaging	0.89
R9142:Erbb2	UTSW	11	98,312,884 (GRCm39)	missense	probably damaging	1.00
R9287:Erbb2	UTSW	11	98,326,107 (GRCm39)	missense	probably damaging	0.98
R9489:Erbb2	UTSW	11	98,311,746 (GRCm39)	missense	possibly damaging	0.54
R9599:Erbb2	UTSW	11	98,318,216 (GRCm39)	missense	probably benign	0.04
R9605:Erbb2	UTSW	11	98,311,746 (GRCm39)	missense	possibly damaging	0.54
R9652:Erbb2	UTSW	11	98,326,812 (GRCm39)	missense	probably damaging	0.96
X0028:Erbb2	UTSW	11	98,325,127 (GRCm39)	missense	probably damaging	1.00
X0062:Erbb2	UTSW	11	98,313,946 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TACTCTAGGCCCTGTGGATG -3'
(R):5'- AAAGGCACTCCTGATTGAGG -3'

Sequencing Primer
(F):5'- TCTGAGGTGACAGGACTCCAG -3'
(R):5'- CCTGATTGAGGAACCACAAGAG -3'

Posted On

2014-09-17